Hemimegalencephaly is a rare congenital disorder of cortical formation with hamartomatous overgrowth all or a part of a cerebral hemisphere. This results from either increased proliferation or decreased apoptosis (or both) of developing neurons 2.
Hemimegalencephaly is a cryptogen...
Hepatic mesenchymal hamartoma is an uncommon benign hepatic tumor. Some authors even consider this to be a developmental anomaly rather than a cystic neoplasm 9,12.
It typically occurs in children and neonates, with most cases presenting within the first two years of life 3. There...
Hepatoblastoma is the most common primary malignant liver tumor in children under four years of age who usually present with painless abdominal mass and raised AFP. It is tumor of embryonic origin.
Most cases are seen during the first 18 months of life and diagnosis in adulthood i...
Although hepatoblastomas can be histologically classified into a variety of sub types, it is important to remember that with the possible exception of small cell undifferentiated sub type, prognosis is independent of histology when adjusted for stage gender and age 1.
As expected there are a number of different staging systems for hepatoblastoma.
PRETEXT grouping system of pediatric liver tumors
not specific to hepatoblastoma; used in all pediatric liver tumors
Intergroup staging system
specific for hepatoblastoma (see below)
Intergroup staging ...
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder.
The exact prevalence is unknown.
The cardinal features of HANAC syndrome are helpfully described in the name of...
Hereditary connective tissue diseases are a group of connective tissue disease that have a degree of inheritance risk. They include:
Marfan syndrome: genetic disease causing abnormal fibrillin
Ehlers-Danlos syndrome: progressive deterioration of collagen and affects joints, heart valves, orga...
Hereditary multiple exostoses, also known as diaphyseal aclasis or osteochondromatosis is an autosomal dominant condition, characterized by the development of multiple osteochondromas.
Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomp...
Herpes simplex (HSV) encephalitis is the most common cause of fatal sporadic fulminant necrotizing viral encephalitis and has characteristic imaging findings.
Two subtypes are recognised which differ in demographics, virus, and pattern of involvement. They are 1:
neonatal herpes encephalitis
Heterotaxy syndrome or situs ambiguus (also commonly, but etymologically less correctly, spelled situs ambiguous) is a disturbance in the usual left and right distribution of the thoracic and abdominal organs which does not entirely correspond to the complete or partial mirror image.
It occurs ...
Hiccups (or hiccoughs), medical term singultus (rarely used), are an unpleasant phenomenon, experienced by everyone on occasion, and usually self-limiting. However the much rarer intractable chronic form can be extremely debilitating.
Hiccups are a symptom that has probably been e...
The Hilgenreiner line is a line drawn horizontally through the inferior aspect of both triradiate cartilages. It should be horizontal, but is mainly used as a reference for Perkin line and measurement of the acetabular angle.
Use of this line with the other lines and angles is used to diagnose ...
Hindfoot valgus refers to malalignment of the hindfoot in which the mid-calcaneal axis is deviated away from the midline of the body.
On the DP view, this results in an increase in the angle between the mid-calcaneal axis and the mid-talar axis (talocalcaneal angle) 1.
Despite abduction of th...
Hindfoot varus describes a relatively varus position of the calcaneus which is adducted and rotated under the talus. This is best appreciated on a weightbearing DP foot radiograph as a relative reduction in the angle formed between the mid-talar and mid-calcaneal axes (the talocalcaneal angle).
Hindfoot equinus describes abnormal plantarflexion (calcaneotibial angle >90°) of the foot that occurs in the hindfoot. It occurs in congenital talipes equinovarus and congenital vertical talus.
The Von Rosen view is a radiographic projection of the hip that demonstrates the relationship between the femoral head and the acetabulum.
The von Rosen view is used in the diagnosis of developmental dysplasia of the hip in pediatric patients. This view forces dislocation of the affected hip(s)...
Hirschsprung disease is the most common cause of neonatal colonic obstruction (15-20%). It is commonly characterized by a short segment of colonic aganglionosis affecting term neonates, especially boys.
Hirschsprung disease affects approximately 1:5000-8000 live births. In short ...
Hoffa's fat pad herniation is defined as herniation of infrapatellar fat through a defect in the lateral retinaculum. It is an uncommon cause of an anterolateral knee mass often detected at the fully flexed knee 1.
Mainly occurs in preschool-aged and young children as a p...
Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from incomplete separation of the two hemispheres.
Classically three subtypes have been recognised, however additional entities are now included in the spectrum of the disease. The three main subtypes, in order of decreas...
Homocystinuria is a rare congenital disorder of metabolism.
The disease may affect one or more of the systems below 1,2:
eye: ectopia lentis
CNS: seizures, dystonia, developmental delay
skeletal: scoliosis, pectus excavatum, long limbs
Humeral condyle fractures represent fractures through the medial or lateral distal humeral condyles.
Type I: Absent or minimal femoral head changes.
A: deformity of the femoral head with intact physis.
B: deformity of the femoral head with premature physeal closure.
Type III: Pseudarthrosis of the femoral neck.
A:Complete destruction of the capital femoral epiphysis wit...
Hurler syndrome is one of the mucopolysaccharidoses (MPS type I).
It carries an autosomal recessive inheritance and manifests in the first years of life. It is clinically characterized by mental retardation, corneal clouding, deafness and cardiac disease, with death resulting in the first decad...
Hutchinson syndrome is limping and irritability due to skeletal metastases from neuroblastoma.
It should not be confused with:
History and etymology
Described by Sir Robert Grieve Hutchison (1871-1960),...
A hybrid lesion in pediatric chest radiology refers to a combination of a congenital pulmonary airways malformation (CPAM) and a pulmonary sequestration (most commonly extralobar). It falls under a type of bronchopulmonary foregut malformation. Due to more sophisticated imaging, they are increas...
Hydranencephaly is a rare encephalopathy that occurs in-utero. It is characterized by destruction of the cerebral hemispheres which are transformed into a membranous sac containing cerebrospinal fluid and the remnants of cortex and white matter 1.
Porencephaly is considered a less severe degree...
Hydrocele of the canal of Nuck is a rare condition in female children caused by a failure of complete obliteration of the canal of Nuck 1. The canal of Nuck is an abnormal patent pouch of peritoneum extending anterior to the round ligament of the uterus into the labia majora 2. Incomplete oblite...
Grading systems of hydronephrosis have been devised to communicate the degree of upper collecting system dilatation. The most common system used (Society of Fetal Ultrasound, SFU) was originally designed for grading neonatal and infant hydronephrosis:
no dilatation, calyceal walls are ...
The hypermobile lateral meniscus (HLM) is one of the causes of lateral knee pain and a locking sensation. In children the cause tends to be due to congenital absence of posterior capsular attachments, whilst in adults it is more likely traumatic.
There is a bimodal age distributi...
Hypertrophic pyloric stenosis can be characterized in ultrasound studies by the measurements of the hypertrophic muscle. Although the criteria can vary from publication to publication, an easy way to keep in mind those values is remembering the first digits of the number "pi", also represented b...
Hyperuricemia is defined as elevated levels of uric acid (≥7 mg/dL) in the blood and may be caused by either urate overproduction or underexcretion.
Patients with hyperuricemia may be asymptomatic or have symptoms and signs relating to one of the complications of hyperuri...
Hypervitaminosis A results from an excess of vitamin A. It usually manifests in children, and one recognised cause is administration from 13-cis retinoic acid for treatment of cancers such as neuroblastoma.
Manifestations can differ depending on whether it is an acute or ...
Hypophosphatasia refers to a rare metabolic disorder characterized by deficient serum alkaline phosphatase activity. The effects of hypophosphatasia are primarily seen in the skeletal system. The condition has marked variation in clinical expression (see subtypes).
The true incide...
Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where affected individuals can have profound cyanosis and cardiac failure.
It is one of the commonest causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to mani...
Hypoplastic right heart syndrome is a congenital cardiac anomaly. It is characterized by an underdeveloped right side of the heart, including the right ventricle, tricuspid valve, pulmonary valve, and pulmonary arteries.
It may be present in around 1.1% of stillbirths and is rarer...
Hypospadias refers to a type of congenital malformation affecting the male external genitalia.
The estimated prevalence is ~2 (range 0.2-4.1) per 1000 live births.
The urethral meatus is abnormally positioned proximally and ventrally to its normal position.
It is thou...
Hypovitaminosis A results from inadequate intake of vitamin A, fat malabsorption, or liver disorders and produces a variety of epithelial alterations.
The World Health Organization currently estimates that 45-122 countries have a vitamin A deficiency of public health significance ...
Scurvy (also known as Barlow disease in infants or historically, as scorbutus) is a condition characterized by an increased bleeding tendency and impaired collagen synthesis resulting in osteoporosis and impaired wound healing. It is caused by a dietary lack of vitamin C (ascorbic acid).
Hypovitaminosis E is well-recognised but rare. It is usually due to the malabsorption of vitamin E, e.g. cystic fibrosis or pancreatic failure. It manifests as dysfunction of the CNS, characteristically presenting with a tremor and ataxia. Tendon reflexes are often absent.
Clinically and radiol...
IgA vasculitis (formerly known as Henoch-Schonlein purpura (HSP)) is a type of non-thrombocytopenic immune-mediated small vessel acute leukocytoclastic vasculitis.
It tends to occur in the pediatric population (peak incidence 3-10 years) 3.
In order to differentiate from other types of vasculi...
Ileal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum. There is an increased incidence in those with chromosomal abnormalities.
This article will focus on ileal atresia alone but bear in mind that some cases correspond to jej...
Imperforate hymen is a congenital condition in which the hymen lacks a normal opening.
It happens in 0.1% of the female population, usually an isolated finding.
Primary amenorrhea with cyclic lower abdominal pain during menarche age. An imperforate hymen c...
Incomplete fractures are a heterogeneous group of fractures that predominantly occur in the long bones of pediatric patients. Rang 1 describes a continuum of fractures that occur with increasing longitudinal force applied along the length of the bone. At the point where force exceeds the structu...
Incomplete hippocampal inversion describes the situation where the normal inversion of the hippocampus fails to happen during development.
Incomplete hippocampal inversion is the most correct description of this finding. Hippocampal malrotation is a term used by some authors 1 alth...
A generalised acceleration in bone maturation can result from a number of aetiological factors. They include:
idiopathic isosexual precocious puberty
hypothalamic or parathalamic lesion with sexual precocity: e.g.
Infantile cervical ligament edema can typically be seen when infants have suffered accidental or abusive head and neck trauma. The finding is best seen on sagittal STIR images.
The posterior ligamentous complex refers to the ligamentum flavum and interspinous ligaments. The anterio...
Infantile fibrosarcoma of the lung, also known as primary bronchopulmonary fibrosarcoma, is a very rare spindle-cell tumor.
More than 80% of cases are reported to occur within the 1st year of life. There is a slight predominance in male infants 1,2.
Infantile hemangiomas are benign vascular neoplasms that are the most common head and neck tumors of infancy. They can occur virtually anywhere, but the majority are found in the head and neck regions.
This article aims to be a generic discussion of the condition, for detailed and more specific...
Infantile hepatic hemangiomas (IHH) are a liver lesion composed of large endothelial-lined vascular channels seen in fetuses and neonates. It should not be confused with a hepatic epithelioid hemangioendothelioma, which occurs in older patients.
Those benign tumors were previously ...
Infectious mononucleosis (also known as glandular fever) is the term for infection with Epstein-Barr Virus (EBV). The infection classically occurs in teenagers and young adults. It usually is diagnosed clinically supported by serum testing, but also may have suggestive imaging findings.
Ingested foreign bodies in children are common as the world is a curious place to young children, who will put anything and everything into their mouth, and will often inadvertently swallow.
The usual practice is for plain films of the chest/abdomen to identify a foreign body.
Innominate artery compression syndrome, also known as brachiocephalic artery compression syndrome, is a rare cause of tracheal stenosis that occurs in the pediatric population.
It can only occur in the presence of an aberrantly positioned thymus that forces the aortic arch or innomin...
Interatrial septal aneurysm or atrial septal aneurysm (ASA) is defined as an abnormal protrusion of the interatrial septum. The exact length of the protrusion that defines an interatrial septal aneurysm varies in the literature, ranging from >11 mm to >15 mm beyond normal excursion in adults 4,5...
Interrupted aortic arch (IAA) is an uncommon congenital cardiovascular anomaly where there is a separation between the ascending and descending aorta. It can either be complete or connected by a remnant fibrous band. An accompanying large ventricular septal defect (VSD) and/or patent ductus arte...
Intestinal failure is when a patient's native bowel is unable to digest and absorb the food, electrolytes and fluids needed for normal growth and development.
This often includes intractable diarrhea, weight loss, dehydration, electrolyte imbalance, and malnutrition.
Intestinal malrotation is a congenital anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.
Although some individuals live their entire life with malrotated bowel without symptoms, the abnormality does predispose to mid...
Intestinal nonrotation is a congenital anomaly of the intestines that results in the small bowel occupying the right side of the peritoneal cavity and the colon predominantly on the left.
It is sometimes thought of as a subtype of intestinal malrotation.
Nonrotation is estimated ...
Intestinal transplantation is a surgical treatment for intestinal failure. It is one of the most rarely performed transplant procedures performed, exclusively involving the transplantation of donor small bowel to a recipient, with an ileostomy formation.
Due to the high risk of complications w...
Intra-abdominal calcification in a neonate can be caused by a number of pathologies that cause calcification within the peritoneal space or within organs.
The commonest cause is meconium peritonitis which is the result of aseptic peritonitis secondary ...
Intracranial cystic lesions in the perinatal period can carry a relatively wide differential which includes:
Supratentorial cystic lesions
choroid plexus cyst
Intracranial teratomas are uncommon intracranial neoplasms, which can have a bewildering variety of components and thus a wide range of appearances. They can be divided into two broad categories, intra- and extra-axial, which differ in epidemiology and clinical presentation. Another method of cl...
Intramembranous ossification describes the process of ossification from mesenchymal cells (stem cells) without a cartilaginous template and is involved in the healing process of fractures. The stages of intramembranous ossification osteogenesis are as follows:
mesenchymal cells differentiate in...
Intraventricular hemorrhage of the newborn is a distinct entity and considered separately from intraventricular hemorrhage (IVH) in adults.
In neonates, IVH is the result of germinal matrix hemorrhage, which ruptures through the ependymal lining and into the lateral ventricles.
Other causes of...
Intussusception occurs when one segment of bowel is pulled into itself or a neighbouring loop of the bowel by peristalsis. It is an important cause of an acute abdomen in children and merits timely ultrasound examination and reduction to preclude significant sequelae including bowel necrosis. Wh...
Intussusception reduction is a procedure performed in pediatric patients who have an ileocolic intussusception.
There are several ways that reduction can be achieved radiologically:
air-reduction under fluoroscopic guidance
water-reduction under fluoroscopic guidance
physical reduction under...
Ischiopubic synchondrosis asymmetry (also known as van Neck-Odelberg disease) is characteristic enlargement of one of the ischiopubic synchondroses. It is largely considered an anatomic variant of skeletal developmental, given that it is a common and usually asymptomatic finding.
However, some ...
Isolated inferior vermian hypoplasia (IIVH), also referred as part of Dandy-Walker variant (DWV), is a congenital malformation characterized by partial absence of the inferior portion of the cerebellar vermis.
The term Dandy-Walker variant was created to include those malformations...
Isomerism is a term which in general means 'mirror-image'. It is used in the context of heterotaxy and is of two types:
Mirror image of the structures on the left side of the chest along the left-right axis of the body, i.e. patients with isomeri...
Jacobsen syndrome (also known as the chromosome 11q deletion syndrome) is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...
The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathologi...
Jejunal atresia is a congenital anomaly characterized by obliteration of the lumen of the jejunum. The site of the atresia can be anywhere from the ligament of Treitz to the jejunoileal junction. There can be more than one atretic segment.
This article will focus on jejunal atresia alone but be...
Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with a wide variability in its manifestations. It is thought to have autosomal recessive inheritance.
There is a wide variability in the clinical presentation, but common features are:
low birth weight
Joubert anomaly, also known as vermian aplasia or molar tooth midbrain-hindbrain malformation, is an autosomal recessive disorder where there is a variable degree of cerebellar vermal agenesis.
When associated with anomalies of the kidneys, liver and/or eyes then the term Joubert ...
A J-shaped sella is a variant morphology of the sella turcica, whereby the tuberculum sellae is flattened, thus forming the straight edge of the "J". The dorsum sellae remains rounded and forms the loop of the "J".
Differential diagnosis for a J-shaped sella includes 1,2...
Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterized by the association of the following:
cleft lip and palate
minor vertebral and rib anomalies 4
horseshoe kidneys 4
Juvenile granulosa cell tumors of the ovary (JGCT) are a less common subtype of granulosa cell tumor of the ovary (~5% of cases). They are classified as ovarian sex cord / stromal tumors.
It typically occurs in premenarchal girls and young women. The mean age of presentation is 13...
Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis, is the most common chronic arthritic disease of childhood and corresponds to a group of different subtypes.
The estimated incidence is ~13 per 100,000 per annum 3. By definition, symptoms must start ...
Staging of juvenile nasopharyngeal angiofibromas is performed with cross-sectional imaging and relies on the identification of local tumor extent, and invasion of adjacent spaces. For a discussion of this entity please refer to the parent article: juvenile nasopharyngeal angiofibroma.
Juvenile osteoporosis refers to osteoporosis occurring in children.
It can arise from a number of causes 1-4:
osteoporosis pseudoglioma syndrome
Juvenile polyposis syndrome, also referred as familial juvenile polyposis, is one of the polyposis syndromes and consists of hundreds of juvenile polyps.
Presentation in the second decade is most common 2.
Rectal bleeding, bowel obstruction and intussuscept...
Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan.
Estimated incidence of 1:32,000 in Japan. Sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial.
The cause for t...
Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by an abnormal ciliary structure or function, leading to impaired mucociliary clearance.
The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 ...
Kasabach-Merritt syndrome, also known as hemangioma thrombocytopenia syndrome, is a rare life-threatening disease found in infants in which a rapidly growing vascular tumor is responsible for thrombocytopenia, microangiopathic hemolytic anemia and consumptive coagulopathy.
Kasai classification is used to describe the three main anatomical types of biliary atresia.
type I: obliteration of common bile duct (patent cystic and common hepatic duct)
IIa: obliteration of common hepatic duct (patent cystic and common bile duct), sometimes with a...
Kashin-Beck disease (KBD) is a rare chronic condition, comprising an osteochondropathy with a concurrent necrosis of the joints. The presentation is similar to rheumatoid arthritis. Pathologically, the lack of dietary selenium is important. The lack of selenium affects the functioning of antioxi...
Kawasaki disease is a small to medium vessel vasculitis predominantly affecting young children. It can affect any body organ but there is a predilection for the coronary vessels.
Japan has the highest incidence in the world, with an annual incidence of 300/100,000 children under t...
Kearns-Sayre syndrome (KSS), also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder.
The patient often presents with progressive external ophthalmoplegia 1. Neurologic symptoms develop in childhood or adolescence, usually before 20 years ...
Kernicterus, also known as chronic bilirubin encephalopathy, describes the chronic, toxic, permanent sequelae of high levels of unconjugated bilirubin on the central nervous system of infants. It is part of the spectrum of bilirubin-induced neurologic dysfunction, which also includes acute bilir...
The keyhole sign is an ultrasonographic sign seen in boys with posterior urethral valves. It refers to the appearance of the proximal urethra (which is dilated) and an associated thick-walled distended bladder which on ultrasound may resemble a keyhole.
Kirner deformity is characterized by a curvature of the distal phalynx of the 5th digit in both a palmar and radial direction.
The deformity typically presents in late childhood to early adolescence, although a mild deformity may be present at birth. Both sexes are affected, altho...
Klinefelter syndrome (KS) is a chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46.
The estimated incidence is 0.15-0.2% of live births.
the testes are normal prior to puberty and small in post pubertal testes...
Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis.
There is a recognised female predilection 1. Klippel-Feil syndrome has an incidence of 1:40,000-42,...
Kniest dysplasia is rare type of short limbed skeletal dysplasia.
It is thought to carry an autosomal dominant inheritance. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene, which encodes for type II collagen (therefore clas...